Champions of HOPE

It’s no secret that we have been followers of “The Global Genes Project” since our diagnosis in 2011.  Meghan fell in love immediately with the denim ribbon, and their slogan, “HOPE it’s in our Genes!”  That play on words stuck with her, and the ribbon gave her a good deal of connection at a time when we weren’t sure if we’d ever connect with another soul with “Cowden’s Syndrome.”  The connection with the RARE Community at large carried us through those earliest days.

hope-its-in-our-genes-300x88

The end of 2011 and well, 2012, and… well, you get the idea… held some tumultuous times for our family.

Adjusting to the diagnosis was not easy.  Finding balance within the labels, and the risks, and the screenings, and the surgeries, and the appointments was (and sometimes still is) a struggle.  In the months when the diagnosis was at its newest, Meghan’s thyroid was called into question several times.  We discovered nodules we never knew were there and learned the early risks of thyroid cancer were real, and ever-present.

She soon underwent the most horrendous of what would be 4 thyroid biopsies over the next 2 years.  Scarred physically and emotionally, we began to wonder about this beast we were up against.

In February of 2012 Meghan had her 4th knee surgery for an AVM (arteriovenous malformation) in her right knee.  Now convinced it’s stubborness could be credited to Cowden’s Syndrome, the fight to control it’s growth took on a whole new meaning, and we were referred for consultation to Boston Children’s Hospital.

While we balanced the screenings for Meghan, I was sent to my own set of initial screenings.  Being 38 and newly diagnosed, I was in the battle full on, and I had had no idea.  All the imminent cancer risks associated with Cowden’s Syndrome – except for the thyroid which often comes earlier – seem to peak right around 40.  No stranger to doctors, I was trying to figure out how the diagnosis helped explain the roadmap that was my own medical history.

In March of 2012, I underwent what was to be a “prophylactic bilateral mastectomy,” to battle the 85% breast cancer risk I had with the PTEN mutation that caused Cowden’s Syndrome, and my own medical history which had already seen 7 increasingly suspicious breast biopsies.  Seven days later, while having my drains removed, my husband and daughter sat in the room as the doctor announce it was a “good thing we moved when we did.”  My left breast, the one that had never seen a scalpel, had 1 centimeter of DCIS, close to the nipple and clear of the chest wall.  I had breast cancer.  They found it by accident.  My aggressive, intelligent surgeon, who I met because of my diagnosis, and really BECAUSE of my daughter had saved my life.  I needed no treatment.

faith_hope_breast_cancer_puzzle

I left the room that day holding the two people I love more than anything.  Unaware of the plans clearly in place for us, I was so filled with gratitude, and so in awe of the reality that if I had never had Meghan, I would have likely never known.  And the surgeon’s words, “If we had waited till July like you had wanted, you would have been in a fight for your life,” still ring in my ears.  Sometimes you have to stop the “what ifs?” and just say “thank you.”

Ten weeks later I was back in the hospital for a complete hysterectomy.  A suspicious uterine polyp, enlarged ovaries, and Cowden’s Syndrome combined again for too great of a risk, and the recommendation was for surgery and quickly.

happy hysterecomy

The shock on my body, the trauma to my family at this point was intense.

I had begun to scour the internet looking for places to go.  I found http://www.PTENworld.com and its dynamic young moderator, a Cowden’s patient for many years.  I found Facebook, and a beautiful support network there.  I found a yahoo group, and a mom there who has consistently gone above and beyond for me, simply out of goodness. Finally, there were real people I could talk to.

One day that Spring I received a Pandora necklace with a pink ribbons on it.  After years of advocating for my mother, a bilateral breast cancer survivor, holding the pink ribbons that belonged to me felt strange.  Yet, so did the new boobs, smaller, but perkier than the old ones, and all the clothes I was learning no longer would fit quite right.  So, I took comfort in that necklace and I wore it a lot.

pink ribbon pandora

And one day my very obsevant girl, who was 8 at the time, a few months shy of 9, asked me “What stands for me?  The gold ribbon is for childhood cancer, the pink ribbon is for breast cancer, the puzzle piece is for autism.  What about me?  What about people like me who are dealing with this (Rare disease) every day?  I NEED something mom.  Not to have a thing, but for my identity.”

Stunned, as usual.  I realized I had begun to heal myself, to seek comfort for myself, but I was leaving her behind.

So I happened to be retelling the story at lunch.  And my teacher friend, whose husband is a jeweler, and who has a son with autism, really “got it” on so many levels.  She told me she’d talk to her husband and see what was around.  So I gave her a denim ribbon sticker from the Global Genes Project, and they were on a hunt.  Which turned up nothing.  There seemed to be no piece of jewelry worldwide to symbolize those with Rare Genetic Disorders.  And, with there being over 7,000 RARE dieseases, accounting for almost 10% of the population, to us this was silly.

So my friend’s husband offered to make one.  For Meghan.  Because if she wanted a piece for her “identity” she should have one.  So he did.  It took months.  And it was perfect.  Absolutely perfect.  And he was so generous in the donation of his time, all to light up my girl’s world.

 

August 2012
August 2012

 

Typical Meghan, no less that 5 minutes after she put it on, she started with, “Wouldn’t it be great Mom, if these were available all over the world, and then we could see them when we went places, and we would know the people who have, or love people with RARE diseases?’  And the conversation continued to include asking me to reach out to The Global Genes Project to try and make it a reality.

Well two years have gone by.  Felix and I each wear one too.  Only 3 ever made.  Until recently.

There have been lots of EMails exchanged.  Lots of conversations.  Lots of people.  Ultimately they did decide to have the necklace made, and while the decision thrilled me, I would be lying if I said that I wasn’t disappointed that they couldn’t use our friend, the jeweler.  But, business decisions are what they are, and this one was not in my control.  And, despite that disappointment, Meghan’s dream, her vision, is becoming reality.  We received 2 samples this week, and a “THANK YOU” from the team at Global Genes!  The necklaces will be on sale through http://www.globalgenes.org in the fall!

denim ribbon necklace 1

denim ribbon necklace 2

Two years have gone by.

I have developed deeper, closer “long distance” relationships with some “kindred spirits” in the Cowden’s Community – globally!

My girl has some of her own friends with Cowden’s now, spread across the world.  She will be 11 soon, and is quite the young lady.  She understands life on levels deeper than she should.  Most impressively she understands that despite our struggles, there are many in the world who struggle in heart, mind, body, and soul.  She knows that “Everyone has SOMETHING!”

This past year she organized an assembly at our school.  She worked with Student Council to arrange an evening fund raiser.  She partnered with a friend in her own class who has a RARE Disease.  We sold T-Shirts.  We received intense support from faculty, and parents and students.  Every child got a denim ribbon to wear for RARE Disease Day.  We sent thousands of dollars to The Global Genes Project.

She has already begun to plan for next year, and wants a much bigger fund raiser.  “At a place Mom.”  We can really get the word out and raise money.  For The Global Genes Project http://globalgenes.org/, and for the newly founded PTEN Hamartoma Tumor Syndrome Foundation http://www.ptenfoundation.org/, another organization close to our hearts.

She has a mind that never stops.  She has the heart and voice of an advocate.  And this year, she was nominated for the TEEN Advocacy Award at The Global Genes Project.  (If you scroll down, the teens are close to the bottom.)

http://globalgenes.org/2014-rare-champions-of-hope-nominees/

Meghan 2014 Nominee
Meghan 2014 Nominee

Champions of HOPE indeed.  So proud of her.  So proud to see her name with all the others who have decided to “Do Something.”

 

“HOPE it’s in our Genes!”

We are BEATINGCOWDENS!

Raising Awareness – One Card at a Time

I am going to brag.

Brace yourself.  It might be a long one.

A short time before we headed to Disney, I wrote about taking out Meghan’s push chair for an appointment in Manhattan.  She was terribly bothered by the rude stares that greeted us that day.

As a result we talked, a lot.  And, like she always does – she comes through those conversations blowing my mind with her introspective maturity.

Don’t misunderstand me.  I sometimes worry that my 10 year old is such a deep thinker.  I am acutely aware that she has way more on her plate than she should, and she handles with grace and poise a life that would leave many adults weeping under their covers.  I wish she told me everything.  I know she doesn’t.  My heart often breaks for the burdens she carries.

Yet, she is just so amazing.

After we spoke about the rude “starers” she talked about wanting to have a way to let them know about Cowden’s Syndrome.  She wanted to raise awareness.

This card was created out of her need to "teach" others about Cowden's Syndrome.
This card was created out of her need to “teach” others about Cowden’s Syndrome.

So she gave her ideas to Daddy and he created this card.  We used the logo from the “Global Genes Project,” an organization that has been dear to Meghan since her diagnosis. http://globalgenes.org/

Meghan wears proudly the denim ribbon created for her by a family friend when she expressed a desire to have a ribbon. something she could wear that would represent her.

A denim cause ribbon, crafted after the Global Genes Project's slogan, "Hope it's in our Genes!"
A denim cause ribbon, crafted after the Global Genes Project’s slogan, “Hope it’s in our Genes!”

She dreams of one day seeing another child wearing this symbol.  She wants it to become as common as the “pink ribbon.”  Because, there are about 7,000 rare diseases, and 1 in every 10 people is affected by one.  Many of these diseases are genetic.  As we learn more about other rare diseases, Meghan understands the need for the rare disease community to unite.  So little research is done on so many of these diseases that they remain poorly understood and under funded.

As we packed for the trip – Meghan asked if we could print some of the business cards for her to bring to Disney.  She wanted to be able to hand them out.  She knew people from all over the world visit Disney, so it would be a great place to spread the word.  500 cards later, I made sure she had all the tools she needed.

What happened next was just another example of how easy it is to be proud to be her mother.

Meghan decided that instead of getting an autograph book this year, she would take pictures with the Disney characters with her cards.

She also spontaneously struck up conversations with complete strangers all over the parks.   She would approach cast members, wait staff, photographers, and guests.  She spoke to people from the US and well beyond.

And every time she spoke my heart smiled.

She is an incredibly articulate young lady.  She explained Cowden’s Syndrome through the eyes of a ten year old to almost 200 people.

Some of the most memorable included a man and his wife and their service dog on the bus to Downtown Disney, and a helpful cast member from Puerto Rico outside the fitting room as she tried on her Merida dress, and a Disney Photopass photographer whose genuine hug was so heartwarming.

Those were just a few.  She spoke to so many people over the course of our 9 day trip that I have no doubt there is a greater awareness of Cowden’s Syndrome in the world than there was just 2 weeks ago.

She will tell you she is not a public speaker.

She might even try to tell you she is shy.

I will tell you she is flat out amazing, and that she is going to do already doing great things.

This child will make the world more aware – one card, and one conversation at a time.

These are Just a few who learned something new this week!

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The Circle of Three

circle of three

My heart and soul.  My circle of strength.

A few weeks ago Felix mentioned he might like to have a denim ribbon pendant to wear.

They are modeled off the Global Genes Project logo, “Hope it’s in our genes!”

He wanted to be able to show his support for Meghan and I all the time.

So, we had another one made and I gave it to him for our anniversary.

I didn’t imagine the effect it would have on me.

What a magical thing to see the ones you love most joined with a symbol of support.

Symbols are just symbols I know – but what they symbolize can still be powerful.

watch me

Felix gives us the motivation, the strength, and the courage to say “I can.”

He makes us laugh.  He holds our hands.

He is as much a part of this Cowden’s Syndrome journey as we are.

We are three but we are one.

Now, near or far we remain connected.

There are no “superpowers” in these denim ribbons…

Well, unless you count LOVE, GRATITUDE, COURAGE, STRENGTH, and HOPE!

Grateful for my circle of three!
Grateful for my circle of three!

Rare Disease Day

So tonight, as I turned the calendar to February, Meghan actually whooped with excitement.

When I asked her why, she told me that she was going to “Celebrate Rare Disease Day” this month.

I smiled in spite of myself.  This kid can get excited about anything, and to imagine that 2 years ago we never even knew there was a “Rare Disease Day.”

Rare disease logo 2013

This year she intends to celebrate with her usual charm and zest.

Our kitchen table is a ribbon making center.  We are gluing denim ribbons at an alarming rate.  She created a half sheet to attach to each ribbon, describing our connection.

Rare_Disease_Day_Ribbon hand made

Then, she bravely approached her school principal to get permission to distribute 950 ribbons to the staff and students at her school.  She will ask them all to wear jeans on February 28th.  And that day, she will not feel alone.

She is getting to know some of the other rare diseases, listed here.

http://www.rarediseases.org/rare-disease-information/rare-diseases

She knows ours is pretty rare, but the list is alarming.  Almost 7,000 diseases fit the criteria for “Rare Disease.”

http://curiosity.discovery.com/question/criteria-to-determine-rare-disease

So tonight, after we left the dentist, with the encouraging news that she doesn’t think we need an oral surgeon.  We were in a pretty good mood.  Meghan and I looked in the mirror at the “cobblestone gums” (a hallmark of our Cowden’s Syndrome) that we share.  Mouth issues are just another battle to be fought in the war.

rare-disease-day-feature

Rare Disease Day gives her a focus.

The pain has been horrendous this week.  The legs, the knee, the groin, the arms.  Probably the weather – everyone says.  Little solace to my 9 year old.  The Celebrex seems to be quitting.  Supplemented each morning by a dose of tylenol, she gets through the day.

But she lights up again when the talk returns to “Rare Disease Day.”  She has hopes that maybe her young friend in Australia, or in Ohio – both with Cowden’s, might be able to Skype into her school.

She and I have matching shirts from with the Global Genes logo.

hope t shirt

She wants to give these ribbons to anyone who will take them.  She wants the world to know, and to understand.  Even if it is only for a day.

She wants her pain, her doctor’s appointments, her worry, her biopsies, her surgeries… to matter.

She knows they do.  To the people who love her.  She knows there is a virtual army following her in prayer every step of the way.  She knows they are praying for the “retinologist”  visit, and for her eyesight, as well as for her health.

She knows that some of them she knows, and some she will never meet.  She appreciates every single one.

And this is the month.  She will have “her” day.  She will include everyone.  She will not feel like 1 in 200,000.  She will not be lonely.

Rare_Disease_Day_Logo_2011-1024x968 2

She hurt tonight.  We rubbed her legs, and kissed her before bed.  We have no idea if it will ever be alright   So we don’t lie anymore.  We do what we can, when we can.

I will contact the local papers, and see if I can get someone to pick up a story on a little girl who wants to change the world.

I will eagerly await a phone call from the Global Genes Project.

You will hear a lot about this during the month.  Bear with us.  We are not passive people.  We work through doing!

Two of a kind
Two of a kind

Two of a Kind

The upside of waiting I guess, is that it gives me a bit of time.  Since I can’t concentrate, I multitask.  Simultaneously taking down the Christmas decorations, while doing laundry and eating chocolate chip cookies with white wine.  Seems like a perfect time to stop and blog.

1337577_wine_swirl

A few months back I posted about Meghan‘s necklace.  The one that we had had created, just for her, inspired by the Global Genes Project logo of the denim jeans.  She received it in August and was so thrilled.  She wears it proudly and looks at it as a platform to explain to people what it stands for.

Meg necklace

Her goal in having it created was to ultimately have the Global Genes Project sell them as a fund raiser.  She has this hope that her idea will ultimately raise money for rare and genetic disorders.  I think she is right, and eventually they will get to selling it.  Although the holidays are a crazy time and a lot of major things have been going on at the Global Genes Project.  They are a super organization.  Working to the benefit of all of us who are affected by rare genetic disorders – in our case, Cowden’s Syndrome.

This fall she had my friend’s husband – who created the piece, engrave hers.  It says “August 2012 – First of its kind.”  How appropriate.  I am quite sure my girl is the “first of her kind” as well.

Because, she decided she wanted me to have one too.  A necklace like hers.

necklace 1

“After all Mom, you didn’t just have breast cancer.  Cowden’s Syndrome is what we will both have – forever.”

She’s right.  As I gulp the last of my wine.  We are at this forever.  Together.  And as much as it flat out stinks, I wouldn’t want to share forever with anyone else.  She is one awesome little girl.  Each of us 1 in 200,000.  Lucky enough to have each other.

Two of a kind
Two of a kind

 

 

 

 

Paying it Forward

Meghan‘s school motto  is “Pay it forward,” and it is one of my most favorite things she has learned in her 4 plus years there.

The students are taught that it is important to give to others, with no expectation of return.  And they develop the knowledge that when others do for them, favors can not always be directly repaid.  It is actually a good philosophy of life.  Do for others for the sake of doing good.  If everyone follows that, chances are when you need a helping hand, someone will be there to stretch it out for you.

So this morning we joined some of my colleagues from school at the “Autism Speaks” walk.  We are facing a major hurricane tomorrow.  Schools have already been closed.  The MTA has shut down bus service, yet the turn out at the BEACH for this walk, was absolutely amazing.  I was full of pride as I stood with my colleagues in support of one of our own.  The proud Mom of a handsome autistic son, and an absolutely beautiful daughter, is a woman of true class.  She is a teacher at my school who I am grateful to have as a friend.

Her team raised close to $2,000  in support of Autism research, and the love in the air this morning was overwhelming.

Everywhere I looked there were fighters.  Young autistic children, and their support networks – strong and mighty.  Prepared to do whatever they can for their children.

Even though our battle and journey differs from theirs, I felt I was among kindred spirits.  Scores of families that keep fighting, keep battling, to ensure their loved one has whatever they need.  In so many ways we wear the same…

We will fight, by whatever means necessary for our children.  That makes us all the same where it matters.  The battles are different – but the war is essentially the same.  And we will not be stopped until it is won.

Paying it Forward

This is the same family, that created Meghan’s denim ribbon necklace.  This is the same Mom, who – even though she has a million things on her mind each day, took my daughter’s need for an identity to heart.  Wearing her own, beautiful diamond puzzle piece each day,  she took Meghan’s concerns home to her husband the jeweler – and he made Meghan’s needs his priority.

Her own necklace is far more beautiful, but the point is she “gets it.”

And it wasn’t long before Meghan had this beautiful piece around her neck, representing rare genetic disorders, like our Cowden’s Syndrome.  There was nothing of its kind in the world, but not to be deterred – this Dad, who also “gets it,”  didn’t stop until it was made.  My girl has her identity  now.

A denim cause ribbon, crafted after the Global Genes Project‘s slogan, “Hope it’s in our Genes!”

Hopefully one day soon, The Global Genes Project will be able to sell these to anyone who wants them.  I know talks are taking place right now, and it is so exciting.

So this morning, it was easy to make our way down to the beach, to support Autism Speaks, and a great family.  It is easy to remember it is not all about us.  That others suffer deeply, and daily.

We are home.  Showered an in our PJs.  We are prepared as we can be… waiting for the storm.  But we will persevere.  It will be OK.  The greatest storms of life aren’t the ones that threaten our things, they are the ones that threaten those we love.  Pay it forward.  You will be awed by the return.

One of a kind…

It probably started in the spring.  Meghan’s class had been working on a fundraiser for Alex’s Lemonade Stand. (alexslemonade.org)  The entire third grade was raising money for childhood cancer, and she took her fundraising work very seriously.

Meghan decided to make a bookmark, with a picture of my cousin Meghan – Angel Meghan as we speak of her – who died from Leukemia in 1991.  She wanted to make her connection to the fundraising personal.  As we prepared baskets of bookmarks to leave with people we knew, Meghan decided we should sell ribbons too.

So, I asked her what color?  She wasn’t sure what I meant, but I really didn’t know if there was a color ribbon for childhood cancer.  So, she took out her iPad and a quick search found us gold.  The gold ribbon was the color for childhood cancer.

 So we headed to Michael’s and bought up as much gold ribbon as we could find. We bought lots of safety pins.  We set to work cutting and pinning.

We dropped baskets off with my Uncle Chris and cousin Katie (“Angel Meghan’s” Dad and sister.)  They were eager to help, and passed baskets off to friends of theirs.  Before we knew it we were making more ribbons, and more bookmarks.

Meghan was so absolutely thrilled to raise over $500 for the project.  It was such a huge success and we were so proud.

That project raised her awareness of her ability to do for others, and helped her confidence so much.  It also made her aware, acutely aware, of cause ribbons.  She would identify the ones she knew, like the pink ribbon for breast cancer, and she would look up ones she didn’t know.  She learned about the puzzle piece for autism, and even yellow ribbons being used when soldiers are away from home.  I think that is the project that truly got her using a search engine too.  (Thanks Mrs. Azzarello!)

It seemed only natural, that months later, having watched me receive pink ribbons after my breast cancer surgery, and after countless surgeries and appointments of her own, that she would ask what “our” ribbon was.  Not sure of course exactly what she meant, I had her clarify.  “What is the ribbon for genetic diseases?”

So back to the search engines we went.  We tried a few other places. but eventually decided that this was the one.

It made sense.  The Global Genes Project had a logo that reflected her cause.  This was the ribbon for Rare Diseases – genetic disorders like our Cowden’s Syndrome.  It Made sense, their saying, “Hope – It’s in our genes” was catchy enough, and it left you thinking about the connection between genes, and jeans – the denim ribbon.

The next question should have had a simple answer – but it didn’t.  She said, “Can I have one?”

Once she clarified that she needed something, something to represent her, and all she has gone through, I understood.  She needed a symbol, something to wear that would make it easier to talk to people, that would help her feel proud, and strong, like it all mattered.

Sure, I thought.  We will get you something.

Well I looked, and I looked, and I looked.  There was nothing.  Beyond the sticker I had gotten as a thank you when I sent a contribution to The Global Genes Project, I could find NOTHING for her to own or wear, no jewelry or clothes with this “denim” ribbon.

Well sometimes the best ideas are born out of lunchtime conversation.  So, as I sat with some teacher friends the next day, I recanted Meghan’s desire to have her own cause ribbon.  One friend, the pure hearted Mom of an autistic son, who was wearing a beautiful diamond puzzle piece around her neck, “got it” on so many levels.  And, her husband happens to be a jeweler.

She said, “give me what you have, let’s see what we can do.”

Well I think we all thought it would be easier than it was.  But after weeks of searching her husband determined that there was nothing, anywhere like what we were looking for.  If we wanted it, we could have it, but they would have to make the mold.

Fortunate to have good and generous people in our lives, we paid only for the cost of the creation of the piece.  My friends husband generously donated his time, because he too “gets it.”  Their goal was only to make my girl happy.  And for that I am so grateful.

After anxious months of waiting, the piece arrived last Friday.  She treats it like a rare gem.

It is RARE, a one of a kind beauty – just like my girl.  But, never staying focused on herself for too long, she thought – wouldn’t it be nice if we could do a fundraiser, and sell these so that we could raise money for The Global Genes Project?

Well, last Friday we sent them an Email with several pictures.  It is a crazy time of year, but we are anxious to hear from them, and hoping that Meghan’s idea, can benefit many others.  It would be fitting.  That’s just the kind of kid she is.

For now though, the necklace is “one of a kind,” just like her!